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Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

Molecular genetics and metabolism - 1 Mar 2012

Grünert Sarah Catharina, Schwab Karl Otfried, Pohl Martin, Sass Jörn Oliver, Santer René

Abstract excerpt

Fanconi-Bickel syndrome (FBS, OMIM #227810), a congenital disorder of carbohydrate metabolism, is caused by mutations in GLUT2 (SLC2A2), the gene encoding the glucose transporter protein-2. The typical clinical picture is characterized by hepatorenal glycogen accumulation resulting in hepato- and nephromegaly, impaired utilization of glucose and galactose, proximal tubular nephropathy, rickets, and severe short...

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PMID: 22214819
DOI: 10.1016/j.ymgme.2011.11.200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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